A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13258154



Internal ID2630767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:92797388..92798609hg38UCSC Ensembl
Innerchr8:92797399..92798598hg38UCSC Ensembl
Outerchr8:92797377..92798620hg38UCSC Ensembl
chr8:93809616..93810837hg19UCSC Ensembl
Innerchr8:93809627..93810826hg19UCSC Ensembl
Outerchr8:93809605..93810848hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg381222
hg191222
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618044
Supporting Variants
SamplesHG02325
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13258154
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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